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Dissertations / Theses on the topic 'Dyslexia – genetics'

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Published: 4 June 2021
Last updated: 1 February 2022

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1

MacPhie, Ian Laurence. "The molecular genetics of dyslexia." Thesis, University of Oxford, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.400145.

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2

Chapman, Jade. "Molecular genetics of developmental dyslexia." Thesis, Cardiff University, 2011. http://orca.cf.ac.uk/55076/.

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Developmental Dyslexia (DD) is a complex, cognitive disorder which is characterised by an impairment in reading despite adequate educational, motivational and intellectual opportunities. Family and twin studies have shown that this common neurodevelopmental disorder has a highly heritable component. The aim of this thesis was to identify novel susceptibility variants for DD using several approaches. A candidate gene study was conducted, testing variants within the genes CDC42, PRTG, KIAA0319L, DCDC2b and RIOK3 for association with DD in the Cardiff case-control sample. None of the variants wit
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3

Brandler, William M. "The genetics of handedness and dyslexia." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:e3b42dba-7077-4ab8-8eb7-14cd198b5a87.

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The population level bias towards right-handedness in humans implies left-hemisphere dominance for fine motor control. Left-handedness and reduced cerebral asymmetry have been linked to neurodevelopmental disorders such as dyslexia. Understanding the biology of these traits at a genetic level is crucial for understanding the relationship between handedness and neurodevelopmental disorders. Here I present genome-wide association study (GWAS) meta-analyses for both relative hand skill (handedness, n = 728) and reading-related traits (n = 548) in individuals with dyslexia. I uncovered a genome-wi
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4

Scerri, Thomas Steven. "Molecular genetics of developmental dyslexia susceptibility on chromosomes 15 and 18." Thesis, University of Oxford, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.490352.

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The first two QTL (quantitative-trait locus) based whole genome-wide linkage screens for DD (developmental dyslexia) susceptibility identified linkage to chromosome 18 at 18p11.2 in a set of UK and US families. This has since been replicated in several other independent studies. This thesis describes the fine mapping of the DD susceptibility QTL on chromosome 18 by genotyping and analysing a denser set of microsatellite markers. This work revealed the identification of a second QTL for DD at 18q12.2.
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5

Gostić, Monika. "Zebrafish as a model to study genes associated with neurodevelopmental disorders." Thesis, University of St Andrews, 2018. http://hdl.handle.net/10023/16446.

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Dyslexia is a neurodevelopmental disorder that affects between 5% and 12% of school-aged children. Individuals with dyslexia have difficulties in learning to read despite normal IQ levels and adequate socio-economical and educational opportunities. Dyslexia has a strong genetic component, but only a few candidate genes have been characterized to date. The KIAA0319 gene is a strong dyslexia candidate found to be associated with dyslexia in independent studies. The KIAA0319 genetic variants associated with dyslexia reside in a regulatory region. Studies in rat suggested that this gene is require
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6

Huguet, Guillaume. "Identification de facteurs génétiques impliqués dans les troubles du spectre autistique et de la dyslexie." Thesis, Paris 5, 2013. http://www.theses.fr/2013PA05T078/document.

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Les troubles du spectre autistique (TSA) touchent approximativement 1% de la population générale. Ces troubles se caractérisent par un déficit de la communication sociale, ainsi que des comportements stéréotypés et des intérêts restreints. Plusieurs gènes impliqués dans le déterminisme des TSA ont été identifiés, comme par exemple les gènes NLGN3-4X, NRXN1-3 et SHANK1-3. Au cours des années précédentes, les TSA ont été considérés comme un ensemble complexe de troubles monogéniques. Cependant, les études récentes du génome complet suggèrent la présence de gènes modificateurs (« multiple hits mo
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7

Nopola-Hemmi, Jaanamarja. "Familial dyslexia : genetic and neuropsychological findings." Helsinki : University of Helsinki, 2002. http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/nopola-hemmi/.

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8

Marlow, Angela J. "Genetic analysis of multivariate traits in dyslexia." Thesis, University of Oxford, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.404177.

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9

Ryan, Jane. "A genome-wide linkage scan and targeted family-based association analysis of dyslexia." Thesis, University of British Columbia, 2008. http://hdl.handle.net/2429/929.

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As a specific reading disability with a neurobiological origin, developmental dyslexia is distinct from reading difficulties due to sensory impairments in vision or hearing. The disability is commonly attributed to a core deficit in phonological processing, the understanding of how phonemes, syllables and words are used in a language. Dyslexia is a complex genetic disorder with a strong genetic component; nine susceptibility loci (DYX1-9) have been identified with eight other dyslexia linkages lacking gene symbols also reported. The statistical methods of linkage and association were employe
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10

Ludwig, Kerstin Urte [Verfasser]. "Molecular genetic analyses in developmental dyslexia & related endophenotypes / Kerstin Urte Ludwig. Mathematisch-Naturwissenschaftliche Fakultät." Bonn : Universitäts- und Landesbibliothek Bonn, 2011. http://d-nb.info/1018327118/34.

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11

Jiang, Beibei [Verfasser], Bertram [Akademischer Betreuer] Müller-Myhsok, Burkhard [Gutachter] Rost, and Bertram [Gutachter] Müller-Myhsok. "Exploring Genetic Interactions: from Tools Development with Massive Parallelization on GPGPU to Multi-Phenotype Studies on Dyslexia / Beibei Jiang ; Gutachter: Burkhard Rost, Bertram Müller-Myhsok ; Betreuer: Bertram Müller-Myhsok." München : Universitätsbibliothek der TU München, 2019. http://d-nb.info/120181989X/34.

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12

Karbalai, Mirza Agha Nazanin [Verfasser], Bertram [Akademischer Betreuer] [Gutachter] Müller-Myhsok, and Hans-Werner [Gutachter] Mewes. "Identification of genetic variants involved in dyslexia pathogenesis by joint analysis of QTLs and epistasis / Nazanin Karbalai Mirza Agha ; Gutachter: Bertram Müller-Myhsok, Hans-Werner Mewes ; Betreuer: Bertram Müller-Myhsok." München : Universitätsbibliothek der TU München, 2015. http://d-nb.info/1125626852/34.

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13

"Distribution and functional studies of the dyslexia-associated protein KIAA0319-Like." 2011. http://library.cuhk.edu.hk/record=b5896680.

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Tsang, Wan Hong.<br>Thesis (M.Phil.)--Chinese University of Hong Kong, 2011.<br>Includes bibliographical references (leaves 156-165).<br>Abstracts in English and Chinese.<br>Abstract --- p.iii<br>Abstract in Chinese (摘要） --- p.V<br>Acknowledgement --- p.vi<br>Table of Content --- p.vii<br>List of Figures and Tables --- p.xiv<br>List of Abbreviations --- p.xvii<br>Chapter Chapter 1 --- Introduction --- p.Page<br>Chapter 1.1 --- Developmental Dyslexia --- p.1<br>Chapter 1.1.1 --- Study of Developmental Dyslexia --- p.1<br>Chapter 1.1.2 --- Genetic Basis of Developmental Dyslexia --- p.
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14

"Studies of candidate genes for susceptibility to developmental dyslexia." 2012. http://library.cuhk.edu.hk/record=b5934633.

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讀寫障礙是最普遍的一種學習障礙（80%)，影響全球大約一成的學童。讀寫障礙患者於閱讀及書寫能力方面出現困難，而這並非因為患者本身的智力、學習動機或學習機會引致。對於引至讀寫障礙的理仍未清楚，但在西方人士的遺傳研究方面已發現多個與讀寫障礙相聯的基因位點及基因。本研究針對其中4個基因位點（DYX1 ’ DYX2 ’ DYX3 ’ DKX8)及其覆蓋的11基因測試了 131讀寫障礙的中國人家庭與讀寫障礙的關聯性。是項研究從國際人類基因組單體型圖(HapMap)中選擇標籤單核苷酸多型性(Tag-SNPs)及選擇以往報告與讀寫障礙有關的單核苷酸多型性進行測試。並在DYXZa基因（rs3743205 ’ padjusted =0.0072' OR = 0.08 ( 95% CI: 0.01 - 0.64 ))私MRPL19 (風險單体型rs2422229-rs7570229,風險單体型T-G, Padjusted=0.0020, OR = 2.345 (95% CI: 1.402 - 3.923))發現與讀寫障礙有正關聯性。單核苷酸多態性亦與閱讀的幾個特徵相關：DYX1C1 ( rs3743205 )與快速命名（Digit Rapid Naming ) ’語音記憶（Non-word repetition)，字型結構的左右逆轉（Left-Right Reversal )相關；KIAA0319 (
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15

"Characterization of the protein encoded by KIAA0319 - a dyslexia candidate gene." Thesis, 2010. http://library.cuhk.edu.hk/record=b6074916.

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Developmental Dyslexia (DD) refers to a reading disorder affecting individuals that possess otherwise normal intelligence. Having demonstrated by familial and twin studies, genetic factors are found to be of major significance to DD development. A strong dyslexia susceptibility gene KIAA0319 (K), of which crucial role in DD had been revealed by various linkage and association studies, was found to have 40% reduction in expression in the DD risk haplotype. Besides, both up- and down-regulation of K would result in impaired neuronal migration in rat. Despite the undoubtedly strong linkage of K t
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16

Tran, Christopher. "An Evaluation of the Reading Disabilities Candidate Genes DYX1C1 and ROBO1." Thesis, 2012. http://hdl.handle.net/1807/33566.

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Reading disabilities (RD) have a significant genetic basis and chromosomes 3p12-q13 and 15q15-21 have shown replicated linkage to RD or reading measures. This study evaluated two RD candidate genes within these regions: DYX1C1 on chromosome 15q21 and ROBO1 on chromosome 3p12. DYX1C1 was tested for association using a family-based analysis of two independent samples. No statistically significant association was observed between the 10 tested DYX1C1 single nucleotide polymorphisms (SNPs) and RD or any of the quantitative traits. A review and meta-analysis of the potentially functional SNPs at th
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17

Cabana, Jean-François. "Caractérisation de la microstructure corticale par IRM multimodale : application à l'étude de la mutation SYN1_Q555X." Thèse, 2017. http://hdl.handle.net/1866/19118.

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Une mutation du gène SYN1 a récemment été découverte chez plusieurs membres d'une grande famille canadienne-française ségréguant troubles du langage, épilepsie focale, et troubles du spectre autistique (TSA). Bien qu'aucune anomalie macroscopique apparente n'ait pu être identifiée dans les données d’imagerie par résonance magnétique (IRM) cérébrales, nous avons émis l'hypothèse que des modalités d'IRM quantitatives sensibles à la microstructure et à la composition des tissus permettraient l’identification d’anomalies subtiles. Nous avons fait l’acquisition de données IRM multimodale chez 1
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18

Tzenova, Jordana. "Genetic analysis of dyslexia." Thesis, 2002. http://hdl.handle.net/2429/13255.

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Dyslexia is a complex trait, which manifests as a specific reading and spelling disability that is independent of general intelligence and educational opportunity. A genetic basis for the trait has been clearly established, leading to the identification of eight dyslexia susceptibility loci to date. The aim of this thesis is to gain more insight into the genetic mechanisms underlying dyslexia by looking at variation at a single locus, variation at multiple loci, and by examining a phenotype that is thought to be co-morbid with the trait in a sample of 100 dyslexia families. The results o
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19

Plavcová, Pavla. "Komparace metod nácviku počátečního čtení a psaní ve vztahu k rozvoji specifických poruch učení." Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-367714.

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In diploma thesis named "Comparison of the practicing methods of initial reading and writing in relation to the specific learning disorders" we are trying to find out if the implementation of one of three methods of teaching to read and write - analytic synthetic method, genetic method or Sfumato eliminates the development of specific learning disabilities - dyslexia, disgraphia and disorthographia. The first part of work looks into theoretical outcomes of each method of teaching to read and write and defines specific learning disabilities. In the second part of work methods of teaching to rea
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20

Freitas, Helena Alice da Silveira. "Crianças Disléxicas com e sem antecedentes familiares: um estudo comparativo no âmbito da neuropsicologia." Master's thesis, 2017. http://hdl.handle.net/10316/84109.

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Dissertação de Mestrado Integrado em Psicologia apresentada à Faculdade de Psicologia e de Ciências da Educação<br>Dyslexic children with and without family history: a comparative study in the reach of neuropsychologyAbstractDevelopmental dyslexia (DD) is a neurodevelopmental disorder of neurobiological origin (APA, 2013). During embryonic development, genetic mutations may occur, which often lead to cognitive impairment (Liu et al., 2011). Studies have shown that, in the brain of people with dyslexia, the DYXC1, DCDC2 and KIAA0319 gene, for example, disrupted the neuron migration or shortened
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21

Hladká, Jitka. "Komparace metod nácviku počátečního čtení a psaní ve vztahu k rozvoji specifických poruch učení." Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-369101.

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Theoretical part of this thesis comprises findings gathered by analyzing available specialized literature focused on specific learning disorders, methods of practicing of initial reading and writing, and Framework Education Program for Elementary Education. The practical part consists of research in a form of questionnaire survey, which compares both learning and writing training methods with respect to specific learning disorders as its main target. The main purpose of this research was to obtain and analyze opinions of specialists from counseling and school psychology clinics on methods of t
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22

BÍLÁ, Jana. "Účinky specifických poruch učení na self-koncept a sociometrickou pozici dítěte ve třídě (práce je součástí rozsáhlejšího výzkumného projektu "Morfologické uvědomění u dyslektiků")." Master's thesis, 2013. http://www.nusl.cz/ntk/nusl-136115.

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The diploma paper looks at specific learning difficulties as a factor affecting,inter alia, social life of individuals. The initial section pays attention to theoretical concepts encountered in this field whilethe main part explores dyslectic adults and compares them with individuals undergoing normal development. The research effort aims primarily at the socially relevant aspects of their lives, in particular the self-concept.
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